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NR0B1 nuclear receptor subfamily 0 group B member 1 [ Homo sapiens (human) ]

Gene ID: 190, updated on 25-Oct-2020

Summary

Official Symbol
NR0B1provided by HGNC
Official Full Name
nuclear receptor subfamily 0 group B member 1provided by HGNC
Primary source
HGNC:HGNC:7960
See related
Ensembl:ENSG00000169297 MIM:300473
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AHC; AHX; DSS; GTD; HHG; AHCH; DAX1; DAX-1; NROB1; SRXY2
Summary
This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]
Expression
Biased expression in testis (RPKM 9.2), adrenal (RPKM 6.6) and 1 other tissue See more
Orthologs

Genomic context

See NR0B1 in Genome Data Viewer
Location:
Xp21.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (30304206..30309390, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (30322539..30327495, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chrX.505 Neighboring gene NR0B1 5' regulatory region Neighboring gene phospholipase C epsilon 1 pseudogene 1 Neighboring gene TLR adaptor interacting with endolysosomal SLC15A4 Neighboring gene CDC28 protein kinase regulatory subunit 1B pseudogene 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
46,XY sex reversal, type 2
MedGen: C1848296 OMIM: 300018 GeneReviews: Not available
Compare labs
Congenital adrenal hypoplasia, X-linked Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2020-05-05)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2020-05-05)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA hairpin binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
steroid hormone receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription corepressor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription corepressor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Leydig cell differentiation IEA
Inferred from Electronic Annotation
more info
 
Sertoli cell differentiation IEA
Inferred from Electronic Annotation
more info
 
adrenal gland development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adrenal gland development IMP
Inferred from Mutant Phenotype
more info
PubMed 
gonad development IMP
Inferred from Mutant Phenotype
more info
PubMed 
hypothalamus development NAS
Non-traceable Author Statement
more info
PubMed 
male gonad development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
male gonad development IMP
Inferred from Mutant Phenotype
more info
PubMed 
male sex determination IEA
Inferred from Electronic Annotation
more info
 
negative regulation of DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of DNA-binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of intracellular steroid hormone receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of steroid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
pituitary gland development NAS
Non-traceable Author Statement
more info
PubMed 
protein localization IDA
Inferred from Direct Assay
more info
PubMed 
response to immobilization stress IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
centriolar satellite IDA
Inferred from Direct Assay
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
polysomal ribosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
nuclear receptor subfamily 0 group B member 1
Names
DSS-AHC critical region on the X chromosome protein 1
nuclear hormone receptor
nuclear receptor DAX-1
truncated nuclear receptor subfamily 0 group B member 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009814.1 RefSeqGene

    Range
    4989..10173
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000475.5NP_000466.2  nuclear receptor subfamily 0 group B member 1

    See identical proteins and their annotated locations for NP_000466.2

    Status: REVIEWED

    Source sequence(s)
    AC005185, AC005926, AW612655, BC011564, BI772108
    Consensus CDS
    CCDS14223.1
    UniProtKB/Swiss-Prot
    P51843
    UniProtKB/TrEMBL
    F1D8P4
    Related
    ENSP00000368253.4, ENST00000378970.5
    Conserved Domains (2) summary
    cd07350
    Location:231464
    NR_LBD_Dax1; The ligand binding domain of DAX1 protein, a nuclear receptor lacking DNA binding domain
    pfam14046
    Location:201246
    NR_Repeat; Nuclear receptor repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    30304206..30309390 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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